Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis

Summary: DHPS deficiency is a rare genetic disease caused by biallelic hypomorphic variants in the Deoxyhypusine synthase (DHPS) gene. The DHPS enzyme functions in mRNA translation by catalyzing the post-translational modification, and therefore activation, of eukaryotic initiation factor 5A (eIF5A)...

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Principais autores:	Leah R. Padgett, Mollie R. Shinkle, Spencer Rosario, Tracy Murray Stewart, Jackson R. Foley, Robert A. Casero, Jr., Myung Hee Park, Wendy K. Chung, Teresa L. Mastracci
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Elsevier 2023-07-01
Colecção:	HGG Advances
Assuntos:	DHPS deficiency neurodevelopment DHPS eIF5A hypusination hypusine
Acesso em linha:	http://www.sciencedirect.com/science/article/pii/S2666247723000386
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